Mutation Details for c.1086T>A
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cDNA Name
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c.1086T>A
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Protein Name
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p.Tyr362X
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Exon or Intron
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exon 8
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Other Details
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This mutation was identified on one allele of CF patient from Ukraine (Carpathian Mountains region). The other mutant allele is F508del.
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Contributors and Institutes
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| Makukh H | - | Institute of Hereditary Pathology of Academe of Medical Sciences of Ukraine. | | Krenkova P | - | Department of Biology and Medical Genetics, Cystic Fibrosis Centre, University Hospital Motol and 2nd School of Medicine. Charles University Prague, Czech Republic | | Bober L | - | Institute of Hereditary Pathology of Academe of Medical Sciences of Ukraine. | | Hnatejko O | - | Institute of Hereditary Pathology of Academe of Medical Sciences of Ukraine. | | Macek Jr. M | - | Department of Biology and Medical Genetics, Cystic Fibrosis Centre, University Hospital Motol and 2nd School of Medicine. Charles University Prague, Czech Republic |
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Submitted Phenotype Details
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Female patient (2005 y.o.b), diagnosed at the age of 6 month. Recurrent bronchoobstructive disease since age of 2 month.Sweat chloride level 100,6 mmo/l, PI, malabsorption syndrome.Cow's milk protein intolerance. Steatorrhea.Bronchiectasis, colonized with Staphylococcus aureus. No one episode of Pseudomonas aeruginosa. Gastroesophagos reflex and enamel hypoplasia of all teeth.
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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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